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Filamin-B

FLNB
Identifiers
AliasesFLNB, ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP, filamin B
External IDsOMIM: 603381; MGI: 2446089; GeneCards: FLNB
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

2317

286940

Ensembl

ENSG00000136068

ENSMUSG00000025278

UniProt

O75369

Q80X90

RefSeq (mRNA)

NM_001164317
NM_001164318
NM_001164319
NM_001457

NM_001081427
NM_134080

RefSeq (protein)

NP_001157789
NP_001157790
NP_001157791
NP_001448

NP_001074896
NP_598841

Location (UCSC)Chr 3: 58.01 – 58.17 MbChr 14: 14.52 – 14.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Filamin B, beta (FLNB), also known as Filamin B, beta (truncated actin binding protein 278 homolog), is a cytoplasmic protein which in humans is encoded by the FLNB gene.

FLNB regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development.[5]

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.[6][7][8]

Interactions

FLNB has been shown to interact with GP1BA,[9] Filamin-A,[10] FBLIM1,[11] PSEN1,[12] CD29[13] and PSEN2.[12]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136068 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025278 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V (2007). "Filamin B mutations cause chondrocyte defects in skeletal development". Hum Mol Genet. 16 (14): 1661–1675. doi:10.1093/hmg/ddm114. PMID 17510210.
  6. ^ Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). "Mutations in FLNB cause boomerang dysplasia". Am J Med Genet. 42 (7): e43. doi:10.1136/jmg.2004.029967. PMC 1736093. PMID 15994868.
  7. ^ Greally MT; Jewett T; Smith WL Jr.; Penick GD; Williamson RA (1993). "Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia". Am J Med Genet. 47 (4): 1086–1091. doi:10.1002/ajmg.1320470731. PMID 8291529.
  8. ^ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997). "Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome". Am J Med Genet. 73 (2): 132–138. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W. PMID 9409862.
  9. ^ Takafuta, T; Wu G; Murphy G F; Shapiro S S (Jul 1998). "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha". J. Biol. Chem. 273 (28). UNITED STATES: 17531–8. doi:10.1074/jbc.273.28.17531. ISSN 0021-9258. PMID 9651345.
  10. ^ Sheen, Volney L; Feng Yuanyi; Graham Donna; Takafuta Toshiro; Shapiro Sandor S; Walsh Christopher A (Nov 2002). "Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact". Hum. Mol. Genet. 11 (23). England: 2845–54. doi:10.1093/hmg/11.23.2845. ISSN 0964-6906. PMID 12393796.
  11. ^ Takafuta, Toshiro; Saeki Mari; Fujimoto Tetsuro-Takahiro; Fujimura Kingo; Shapiro Sandor S (Apr 2003). "A new member of the LIM protein family binds to filamin B and localizes at stress fibers". J. Biol. Chem. 278 (14). United States: 12175–81. doi:10.1074/jbc.M209339200. ISSN 0021-9258. PMID 12496242.
  12. ^ a b Zhang, W; Han S W; McKeel D W; Goate A; Wu J Y (Feb 1998). "Interaction of presenilins with the filamin family of actin-binding proteins". J. Neurosci. 18 (3). UNITED STATES: 914–22. doi:10.1523/JNEUROSCI.18-03-00914.1998. ISSN 0270-6474. PMC 2042137. PMID 9437013.
  13. ^ van der Flier, Arjan; Kuikman Ingrid; Kramer Duco; Geerts Dirk; Kreft Maaike; Takafuta Toshiro; Shapiro Sandor S; Sonnenberg Arnoud (Jan 2002). "Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits". J. Cell Biol. 156 (2). United States: 361–76. doi:10.1083/jcb.200103037. ISSN 0021-9525. PMC 2199218. PMID 11807098.

Further reading

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